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多学科分子咨询增加了儿科脑病和神经发育障碍的诊断

Liping Zhang1, Xu-Ying Li2, Fanxi Xu2

  • 1Department of Pediatrics, Xuanwu Hospital of Capital Medical University, Beijing, China.

Molecular genetics & genomic medicine
|July 25, 2023
PubMed
概括

一个多学科分子咨询 (MMC) 团队改善了和神经发育迟缓的诊断. 这种协作方法纠正了误诊,并在23%的儿科病例中确定了致病性遗传变异.

关键词:
是一种.性脑病 - - 性脑病基因诊断 基因诊断 基因诊断在其中,在其中.多学科分子咨询咨询神经发育延迟是一种神经发育延迟.

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In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...